tv [untitled] December 21, 2010 2:30pm-3:00pm PST
narrator: these individuals have a genetic disorder called usher syndrome. each was born with hearing loss, often complete deafness, and all have retinitis pigmentosa, a condition that causes slow, progressive loss of vision. the typical case, ok, is one, a son or a daughter, originally diagnosed as having a hearing loss and then eventually within several years later, usually as a preteen or teen, diagnosed with the retinitis pigmentosa, and the family is thunderstruck because there's nobody else in the family with a hearing loss. there's nobody else in the family with any kind of visual problems other than grandma, who had cataracts. so, how could this happen?
narrator: paul molloy has usher syndrome. he is profoundly deaf and legally blind. he and his wife, who is also deaf, have two children who are hearing and sighted. paul lives on long island and commutes daily to manhattan, where he works at columbia university. paul learned he had usher syndrome while attending college when he was 19 years old. at this point in his life, he has only a pinhole of vision left and uses a cane to assist him with travel. with usher syndrome, your vision is always changing, especially as you get older. some of these changes will have a significant impact on your life. i call these changes hits.
for example, in your teen years, you start to experience night blindness where you lose the ability to travel independently or safely at nighttime. narrator: lauren is 13 and, like others with usher syndrome, is experiencing early night blindness. often, this is exhibited by a child tripping or bumping into things or, in general, being viewed as clumsy. i did notice that what i thought was her balance wasn't where it should be and that she seemed to be having some trouble seeing peripherally, but what was happening again now is, the ophthalmologists, too, were not seeing what i was seeing
and basically were just telling me, "no. she does not have usher syndrome. she doesn't have retinitis pigmentosa," until she was older. then they were actually able to see the spots in her retina when they examined her. well, like, i don't have very good balance, so riding a bike was hard, but actually, my dad helped me through it, and we ride bikes together on bike trails, and we do it a lot, and i am actually a very good bike rider, and i don't fall anymore. diana: i think it's important to actually discuss it because, like you said, there are different things that you can do in order to promote safety such as carrying a flashlight, just being more careful, or trying to keep in the back of your mind, you know, when dusk is going to happen and try to get to your destination before then. narrator: where does usher syndrome come from?
usher syndrome is always genetic. ushers is an inherited condition, not from one parent, but both. kimberling: the reason why it's this way is because it takes two for usher syndrome to happen. it takes a gene, a specific gene, coming from mom and one coming from dad, and they have to come together. the interesting consequence of that, since mom and dad have to be so-called carriers, is that you seldom see usher syndrome occurring in other family members. narrator: parents of deaf children are confronted with many choices regarding communication and education. some choose sign language, others an auditory/oral education, while others choose a combination of both. hearing aids and, more recently, cochlear implants
are also widely used. lauren's parents chose an auditory/oral education and a cochlear implant at an early age. diana: so, i wenouout, and i researched older children, how they were doing with their cochlear implants, and they were doing phenomenally. so then i got the cochlear implant when i was 3, and then that's when i started going to lois. the goal is always to be able to listen. that's always the primary goal, and so it's getting her to listen to the sounds in a fun way and respond to them, and one of the techniques that we used for speech was oral motor therapy, which means that we are working on the structure and the rerength and flexibility of the articulators because children that haven't heard the first 3 years of life don't really use their jaw strength and their tongue strength the same way as children who have, and so we've strengthened those so she can make all the rapid movements of speech, and i think what you hear with lauren is, she has beautiful speech.
i saw him yesterday. and you have to set goals for yourself, and you have to try to meet those goals, and if you don't, you just have to keep on trying harder and harder or lower the goals. say, like, you don't want to start something out, like, too hard for yourself. you want to take it easy, then work your way up. narrator: because their deafness is always discovered first, individuals with usher syndrome are involved in supported education, and many learn sign language, assimilating themselves into the world of deaf culture. isatou is 14 years old and affectionately known as izzy to her friends. izzy was born deaf and diagnosed with ushers at age 10. she uses american sign language to communicate and attends lexington school for the deaf in new york city.
consider, however, how her vision impacts communication at home. the way she's growing up, she is going to be losing her vision. she won't be seeing that much, and i know because now when i am talking to her, when i tell her something, when i sign her something, she might see me, but she won't see all the signs, or sometimes when she is walking in the room and then light is not that bright, and you can see she's bumping into things, or she's holding stuff and see where she going. when she drops something, it can be in front of her, but she won't see it. narrator: while an individual with ushers can see in good lighting, hihis or her field of vision is greatly reduced. in the classroom, izzy can only see one person at a time and often misses what her classmates are signing.
even while watching her teacher, some of the words he signs extend beyond her field of sight, making it difficult for her to keep up in class. kimberling: i think the average joe on the street, when you say, "my child has a hearing loss, and--oh, yes-- they are losing their vision," is going to say, "oh, my, that's awful," and that's a natural response of someone who really doesn't understand a lot about usher syndrome. vision is gradually going to decrease over time. they're going to be night blind, and they're going to have greater and greater difficulty seeing off to the side. ultimately, what happens is tunnel vision. for them, it becomes like looking through a straw, so it's a gradual decrease to a really restricted tunnel vision, in many people, though, that vision within that straw is actually 20/20.
narrator: corey is a junior in college majoring in psychology. he played basketball in high school, but as ushers has changed his vision, he now prefers a less-competitive game-- solo or one-on-one. translator: my visual field is about this big. i can see about this much in the center. over here, though, i can't see anything at all. i have some residual islands of vision where i can see a little bit back over here and here, but my best vision is right here in the center. off to the side, there's nothing here at all. even though the individual is experiencing night blindness, they still have good daytime vision, but when the peripheral field starts to close in, then that leads to the next hit--driving.
narrator: driving a car is the hallmark of american adolescence, but for ryan, now in his third year of college studying computer science, that dream was shattered during a routine visit to the eye doctor. translator: well, i rembmber going into the doctor's office. i was having a visual field test where they measure how much vision is left. i went in, and i sat down across from the doctor. i was very hopeful that i could get a driver's license and learn to drive. well, the doctor told me my vision wasn't good enough. it was close, borderline, but i was legallblblind. i was told absolutely no. i couldn't get my license.
i was so hurt because, from my perspective, i could see well enough to drive, at least during the daytime, but after that test and that definite no, i was devastated. it broke my heart. narrator: kadie is a second-year college student studying accounting. like lauren, kadie received a cochlear implant as a child and developed the ability to speak. it was not until she was preparing to drive that she even learned that she has usher syndrome. you know, first, they told me i had ushers, and the doctor said, "ok. you're turning 16 years old. you can't go for your license," and i was like, "that's not fair." you know, being 16 years old should the day that you're looking forward to, like, getting your license and everything, so i was very upset.
i was mad. i had all these emotions running through my body. i just didn't know what to do. narrator: mansur is currently studying applied computer technology. growing up in georgia, his father taught him the fundamentals of driving. translator: i must admit that i drove when i was about 16 years old. i got my license and drove on country roads without a problem... but when i was driving on this road one time where there was road construction, it was very awkward. i wasn't really sure about the speed limit, so i was going really slowly. i should have been going faster.
that's when my dad changed his mind and decided i couldn't drive any more. narrator: mansur took up wrestling in high school but now wrestles in college, where all of his teammates are hearing. with an interpreter present, his coach provides complex instruction, and teammates find alternative ways to work together. i do the move in 2 or 3 parts, so i make sure that he understands what i'm doing, and then he does the same... [whistle blows] and then next time, he does it better th m me. as the peripheral vision continues to close in, individuals start bumping into things, tripping, and even hurting themselves. this leads to our next hit-- using a cane. when i see people with cane, i think they are blind. that's my first reaction. translator: while i was using the cane,
i saw how people would move away from me, and i noticed their exaggerated responses, moving totally out of my way while staring at me. i feel like i'm in a fishbowl. if i use a cane, i'm basically telling myself, "you're blind. you can't see," and i don't feel that way at all yet. translator: deep down inside, i feel silly, embarrassed... because i feel like i've done something wrong or missed something, like i've messed up and everybody noticed. i can see it on their faces, and i don't like that. i wish they would just ignore me and let me walk right along. i'd like that better. as your vision continues to decline, how you communicate with people becomes an important issue.
for myself, i use visual sign language, but in places that are dark or difficult to see, i need to use tactile sign language. tactile signing is when the person puts their hand on you and sign and you feel the sign instead of seeing it. for myself, i don't know if i'm 100% comfortable with that yet because i'm not sure if i'm ready to give up my visual language. narrator: up until now, we have seen young adults struggling with adaptations required by their decreasing vision. jelica is an adult who has reached a high level of adaptation. born in oaoatia, she immigrated to the united states with her parents when she was 4 years old. jelica was diagnosed with ushers when she was 19. she graduated with a bachelor's degree in biology
and later received a master's degree in public health. she moved to seattle and is now the executive director of the deaf-blind service center. she manages an office and conducts business meetings using tactile communication. translator: i run the everyday operation and make sure the staff are doing their jobs. i am responsible for making budget decisions. also, i coordinate with executive directors of other organizations. because we are small and specialized, we can't do everything, so we divide the responsibilities and avoid duplication of services. narrator: using her cane and public transportation, jelica travels independently to a meeting across town. she uses a vibrotactile crossing signal to make her way across the street.
she signals the bus driver about her special needs with color-coded cards. the driver knows to stop and traces the route number on her hand, indicating she is boarding the correct bus. translator: i know people are shocked at seeing a cane, and they're shocked at seeing tactile communication, and it's true--it is shocking-- but it's so much better than pretense or denial because then you end up looking really stupid. narrator: at her destination, jelica meets her scheduled support service provider,
or ssp. the ssp provides visual information and guidance. today she meets with a representative from seattle's aging and disability services division to discuss the annual walkathon fundraiser. the walkathon is an activity that brings hearing, deaf, and blind residents together to learn more about each other. part of jelica's job is to raise money to keep the agency functional. each year, this fundraiser promotes awareness and support for the deaf-blind service center and its programs. "hey, everybody! you guys ready? "this is the second group. "we're going to take off at 11:00, "but first, i wanted to thank everybody "for all of your wonderful support and spirit for dbsc. thank you. thank you. thank you." yeah! translator: this is the kind of work i do every day-- reaching out to others,
encouraging them to believe in themselves, urging them to use their own skills and their own minds, especially their minds, which will help them overcome any barriers they encounter. narrator: jelica shares her life out of the office with her husband vince. they met while attending college. although he was born profoundly deaf, vince does not have usher syndrome. translator: we've been married for 17 years and have grown a lot over that time. vince has a disability, as well. he depends on me for many things, and i rely on him in different ways. we support each other. there's equality in the relationship. of course, vince and i both get comments about how sweet he is and how lucky i am to have him. my first response is, "no. he's lucky to have me, too."
translator: many people don't really recognize the power of love... and don't realize the meaning of true friendship. we've let go of people who are not there for both of us and find friends who benefit us both. translator: technology is changing so rapidly, everything soon will be running on braille. the large-print format we have now is not practical for small portable devices, which, in turn, means i realize i'll need to transition to braille because everything is so small. handheld gps systems are just one example. gps would be wonderful while i'm traveling, but the printout would be in braille, and i would have to learn how to use braille. with changing technology, smaller devices like that
don't have the capacity for large print. they can only show one letter at a time. it would take forever to read one word. i know that won't work, so when you project out 5 to 10 years, the new technologies will challenge me to become fluent in braille, as well. narrator: technology is rapidly changing the way we all live our lives. so, too, medical research is changing the way we view and treat disease. with all this progress, what does the future hold for those who have usher syndrome? this is going to be a very gradual process. we're going to be able to slow it first because that's the easiest thing to do. ultimately, we'll be able to stop the progression of the rp, and finally, we're going to be able to reverse it and give back some of the vision that people have lost. now, this isn't going to happen tomorrow,
and it will come in short, little spurts. there'll be a this, that will maybe help a little bit, then something else that will help a little bit. it's going to be just like cancer research, just little pieces, and little parts of the therapy come at different times, and each one has a small effect, but ultimately, ultimately, we're going to be able to fix this disorder. now you understand the personal challenges that we are faced with living with usher syndrome, but it's important to understand that living with usher syndrome is not a one-time event, but it's a lifelong process. each change in life can cause challenges that must be dealt with, but more importantly, we've already witnessed that with appropriate support, adaptation, and attitude, people with ushers
can and do live meaningful and productive lives. narrator: it would be erroneous to say that people with ushers accept the disease, but they do manage to adapt. in fact, learning to adapt over and over and over is what is required to live with usher syndrome. and to see her now, you know, this young lady in, you know, adolescence, you know, changing and becoming so sure of herself and so bright d d so interested in so many things, it makes me feel that that's what i am supposed to do, is help kids communicate, and it was successful. you have a long road ahead of you. you have a lot of work to do, but i think that if you do the work, you'll see great results and that your child can do whatever he or she wants to do.